Application Of Next Generation Sequencing For The Diagnosis Of Epileptic Encephalopathy: The Science, The Costings And The Impact.
Funder
National Health and Medical Research Council
Funding Amount
$122,714.00
Summary
Epileptic encephalopathy (EE) causes a devastating seizure disorder and intellectual disability in children. There are hundreds of rare, mostly genetic causes. Finding the cause is critical to guide treatment but currently investigations are expensive, invasive and rarely successful. This study aims to use the latest type of genetic testing to find the most cost and time effective way to diagnosis the most children, exploring the impact of testing on the child, family and health care services.